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Journal Abstract Search

310 related items for PubMed ID: 30768759

  • 1. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
    Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K.
    Am J Med Genet A; 2019 Apr; 179(4):659-662. PubMed ID: 30768759
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  • 2. A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
    Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A.
    Am J Med Genet A; 2019 Aug; 179(8):1615-1621. PubMed ID: 31145527
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  • 3. Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
    Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogné B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M.
    Clin Genet; 2023 Feb; 103(2):156-166. PubMed ID: 36224108
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  • 5. 19q13.32 microdeletion syndrome: three new cases.
    Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM.
    Eur J Med Genet; 2014 Feb; 57(11-12):654-8. PubMed ID: 25230004
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  • 8. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
    Niclass T, Le Guyader G, Beneteau C, Joubert M, Pizzuti A, Giuffrida MG, Bernardini L, Gilbert-Dussardier B, Bilan F, Egloff M.
    Am J Med Genet A; 2020 Sep; 182(9):2133-2138. PubMed ID: 32633079
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  • 9. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
    Shimojima K, Okamoto N, Yamamoto T.
    Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413
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  • 13. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
    Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S, SOGRI ConsortiumInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario LaPaz-UAM, Paseo de La Castellana, Madrid, Spain.CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Callede Melchor Fernández Almagro, Madrid, Spain., Cigudosa JC, Pérez-Jurado LA, Lapunzina P.
    Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
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  • 14. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
    Vergult S, Krgovic D, Loeys B, Lyonnet S, Liedén A, Anderlid BM, Sharkey F, Joss S, Mortier G, Menten B.
    Eur J Hum Genet; 2011 Oct; 19(10):1032-7. PubMed ID: 21505450
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  • 17. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
    Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM.
    Am J Med Genet A; 2011 Jun; 155A(6):1336-51. PubMed ID: 21548129
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  • 18. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.
    BMC Med Genet; 2015 Aug 22; 16():68. PubMed ID: 26293599
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